Canonical Allele Identifier: PA1139669168
Gene: EXT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 908080
ClinVar RCV Id: RCV001158361

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000118.2:p.Gln583His
CA4854018
NM_000127.3:c.1749G>C
CA371878572
NM_000127.3:c.1749G>T